DisGeNET - a database of gene-disease associations

Stuttering, C0038506

Variant: rs58898021 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs58898021

rs58898021

DES

0.010

GeneticVariation

BEFREE

In addition, the A357P mutation distorts a unique stutter sequence that is considered to be critically important for proper filament assembly.

2003